Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dynein 2 intermediate chain 2
Synonyms:
3200002I06Rik,  Wdr34

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dync2i2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dync2i2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Jeune Syndrome
Abnormal metaphysis morphology, Cone-shaped epiphysis, Postaxial hand polydactyly, Abnormal pelvi... ORPHA:474
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Disproportionate short-limb short stature, Abnormal pelvis bone o... ORPHA:93271

The table below shows human diseases predicted to be associated to Dync2i2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... OMIM:211960
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Gombo Syndrome
Delayed puberty, Microphthalmia, Radial deviation of finger, Brachydactyly, Clinodactyly OMIM:233270
Acalvaria
Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida ORPHA:945
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly ORPHA:64754
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Upper limb phocomelia, Syndactyly ORPHA:294975
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... ORPHA:2839
Camptodactyly Syndrome, Guadalajara Type 1
Cubitus valgus, Scapular winging, Spina bifida, Short stature, Camptodactyly of finger, Short toe... ORPHA:1327
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly,... OMIM:603194
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Schisis Association
Micromelia, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Anophthalmia Plus Syndrome
Deviation of finger, Anophthalmia, Spina bifida ORPHA:1104
Humero-Radial Synostosis
Abnormality of the wrist, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Meningocele, Aplasi... ORPHA:3265
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Short stature ORPHA:141333
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... ORPHA:2437
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Caudal Duplication
Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... ORPHA:2117
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... ORPHA:1908
Sirenomelia
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida OMIM:207950
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Short stature, Large hands, C... ORPHA:3219
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Intrauterine growth retardation, Talipes equinovarus OMIM:616570
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyl... OMIM:611134
Meckel Syndrome, Type 11
Polydactyly, Occipital encephalocele OMIM:615397
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Spina bifida ORPHA:2345
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Talipes equino... OMIM:613885
Intellectual Developmental Disorder, Autosomal Dominant 72
Broad palm, Spina bifida OMIM:620439
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Hypo... OMIM:300863
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... OMIM:136760
Congenital Vertical Talus
Rocker bottom foot, Equinus calcaneus, Myelomeningocele ORPHA:178382
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
2Q24 Microdeletion Syndrome
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... ORPHA:1617
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Nail-Patella Syndrome
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... OMIM:161200
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:611638
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Microphthalmia ORPHA:324416
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Hypoplasti... OMIM:169550
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Spina bifida, Intrauterine growth retardation, Toe syndactyly OMIM:616038
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... ORPHA:65759
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... ORPHA:163966
Joubert Syndrome 16
Polydactyly, Encephalocele OMIM:614465
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident ... OMIM:614815
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum, Short stature OMIM:618123
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature, Syndactyly, Brachydactyly, Clinodactyly OMIM:610023
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Hydrocephalus, Elbow flexion contracture, Short foot, Spina bifida, ... OMIM:613776
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation OMIM:164180
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Micromelia ORPHA:291
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polydactyly, Microphthalmia, Syndactyly OMIM:602501
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Vacterl With Hydrocephalus
Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Anophthalmia, Hydrocephalus, Spina... ORPHA:3412
Lissencephaly 8
Occipital encephalocele, Microphthalmia, Talipes equinovarus OMIM:617255
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Sho... ORPHA:1393
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot p... OMIM:607361
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mmep Syndrome
Split foot, Microphthalmia, Triphalangeal thumb ORPHA:3434
Bresek Syndrome
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Growth delay, ... ORPHA:85284
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Hydrocephalus, Myelomeningocele, Aplasia/Hypoplasia affecting the eye, Brac... ORPHA:1914
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Trisomy 18
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... ORPHA:3380
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Spina bif... ORPHA:2092
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... OMIM:617927
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda... OMIM:614175
Iniencephaly
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelome... ORPHA:63259
Mosaic Trisomy 9
Rocker bottom foot, Microphthalmia, Deep palmar crease, Elbow dislocation, Micromelia, Spina bifi... ORPHA:99776
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Talipes equinovarus, Short stature OMIM:616171
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hy... OMIM:206920
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Camptodactyly of finger, Meningocele ORPHA:1759
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Palmar pits, Hydrocephalus, Spina bifida, Brac... OMIM:109400
Joubert Syndrome 22
Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly, Intrauterine growth retardation, ... OMIM:615665
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot... OMIM:614120
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Neu-Laxova Syndrome 1
Rocker bottom foot, Stillbirth, Short umbilical cord, Radial deviation of finger, Small placenta,... OMIM:256520
Limb Body Wall Complex
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... ORPHA:2369
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap OMIM:612918
Curry-Jones Syndrome
Microphthalmia, Triphalangeal hallux, Lipomyelomeningocele, Broad thumb, Duplication of thumb pha... OMIM:601707
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... ORPHA:93322
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Cofs Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia, Short stature ORPHA:1466
Cousin Syndrome
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... OMIM:260660
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism, Aplasia/Hypoplasia affecting the eye ORPHA:1926
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation OMIM:609054
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... OMIM:304120
Fanconi Anemia, Complementation Group G
Growth delay, Abnormal thumb morphology, Microphthalmia OMIM:614082
Cloacal Exstrophy
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid... ORPHA:93929
Pierpont Syndrome
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Short stature, Short ... OMIM:602342
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Hydrolethalus
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia ORPHA:2189
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormality of the hand, Microphthalmia, Clinodactyly of the 5th finger, Optic nerve hypoplasia, ... ORPHA:508498
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial ... OMIM:251230
Trisomy 20P
Abnormal hip bone morphology, Finger syndactyly, Spina bifida, Camptodactyly of finger, Brachydac... ORPHA:261318
Bardet-Biedl Syndrome 16
Polydactyly, Short stature OMIM:615993
Subependymal Nodular Heterotopia
Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele ORPHA:101030
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E... ORPHA:2211
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele OMIM:611560
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Growth delay, Absent thumb OMIM:617244
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Neural tube defect, Clinodactyly OMIM:119580
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Campomelic Dysplasia
Disproportionate short-limb short stature, Dislocated radial head, Hypoplastic iliac wing, Femora... OMIM:114290
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia, Intrauterine growth retardation ORPHA:858
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Short stature ORPHA:2528
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele ORPHA:66637
Fanconi Anemia
Microphthalmia, Abnormal femur morphology, Abnormality of the upper limb, Umbilical hernia, Intra... ORPHA:84
Cartilage-Hair Hypoplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Limited elbow extension, Rhizomelia, ... ORPHA:175
Pierpont Syndrome
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Excessive wrinkling o... ORPHA:487825
Vater/Vacterl Association
Postnatal growth retardation, Occipital encephalocele, Hypoplasia of the radius, Preaxial polydac... OMIM:192350
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Moebius Syndrome
Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C... OMIM:157900
Temtamy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum ORPHA:1777
Pallister-Hall Syndrome
Microphthalmia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Short stature, Partial duplication... OMIM:617926
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Short stature, Upper l... ORPHA:231140
Phaver Syndrome
Triphalangeal thumb, Myelomeningocele, Broad thumb, Camptodactyly of finger, Short thumb, Radioul... ORPHA:2876
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Growth delay, Postaxial polydactyly OMIM:614424
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Broad proximal phalang... OMIM:607597
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... ORPHA:93267
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Short stature, Bra... OMIM:602361
Phakomatosis Pigmentokeratotica
Hemiatrophy, Spina bifida ORPHA:2874
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Short stature, Intrauterine... ORPHA:48431
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Short stature OMIM:300484
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contra... OMIM:618914
Septooptic Dysplasia
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Short stature OMIM:182230
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Triploidy
Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the eye, Holoprosence... ORPHA:3376
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Postnatal growth retardation, Small placenta, Clinodactyly of the 5th finger, Ectrod... ORPHA:397590
Wildervanck Syndrome
Meningocele ORPHA:3456
Nanophthalmos
Microphthalmia ORPHA:35612
Cat-Eye Syndrome
Short stature, Microphthalmia, Intrauterine growth retardation, Hip dysplasia ORPHA:195
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Encephalocele, Hypoplastic acetabulae, S... OMIM:134780
Frontorhiny
Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Brachydactyly, Crani... ORPHA:391474
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Short clavicles, Myelomeningocele ORPHA:60015
Jacobsen Syndrome
Finger syndactyly, Spina bifida, Toe clinodactyly, Short stature, Hand polydactyly, Toe syndactyl... ORPHA:2308
Hallermann-Streiff Syndrome
Abnormality of the hand, Microphthalmia, Slender long bone, Proportionate short stature, Spina bi... OMIM:234100
Adams-Oliver Syndrome
Microphthalmia, Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Finger ... ORPHA:974
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Spinal dysraphism, Tethered cord OMIM:617660
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Intrauterine growth retardation, Hypoplastic ischia OMIM:616910
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... OMIM:607323
Waardenburg Syndrome, Type 1
Hypoplastic iris stroma, Myelomeningocele, Spina bifida OMIM:193500
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Single transverse palmar crease, Absent distal phalanges, Short mi... OMIM:614219
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... OMIM:615986
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Meningocele ORPHA:588
Neu-Laxova Syndrome
Intrauterine growth retardation, Large hands, Micromelia, Spina bifida ORPHA:2671
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, P... ORPHA:1553
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, Tibial bowing, Postaxial hand polydactyly, Central Y... OMIM:277170
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia... OMIM:169400
Warburg Micro Syndrome 1
Short stature, Overlapping toe, Microphthalmia OMIM:600118
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Bilateral microphthalmos, Flexion contracture of toe, Flared metaphysis, Disl... OMIM:610758
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome... OMIM:600145
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia OMIM:613155
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Broad thumb, Foot polydactyly, Han... ORPHA:250989
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... ORPHA:2788
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Microphthalmia, Encephalocele ORPHA:228390
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Monosomy 18P
Short stature, Microphthalmia, Holoprosencephaly, Brachydactyly ORPHA:1598
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Microphthalmia, Syndromic 12
Microphthalmia, Neonatal death, Anophthalmia OMIM:615524
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Encephalocele, Single transverse palmar crease, Small thenar eminenc... OMIM:619148
Developmental Delay, Language Impairment, And Ocular Abnormalities
Short stature, Tethered cord, Contracture of the proximal interphalangeal joint of the 5th finger... OMIM:620141
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Po... OMIM:619879
Nephronophthisis 15
Polydactyly OMIM:614845
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... OMIM:617866
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Dispro... ORPHA:2879
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Microphthalmia, Tapered finger, Sandal gap ORPHA:1438
Houge-Janssens Syndrome 2
Hydrocephalus, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Autosomal Recessive Spondylocostal Dysostosis
Spina bifida occulta, Meningocele, Finger syndactyly, Short stature, Camptodactyly of finger, Umb... ORPHA:2311
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly OMIM:619694
Nanophthalmos 4
Microphthalmia OMIM:615972
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, M... OMIM:616300
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Microphthalmia, Growth delay, Camptodactyly of finger, Intrauterine growth re... OMIM:610756
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Metaphyseal spurs, S... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly, Intrauterine growth r... OMIM:618142
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Short stature, Intrauterine growth retardation, A... ORPHA:290
Linear Skin Defects With Multiple Congenital Anomalies 2
Short stature, Microphthalmia, Sandal gap OMIM:300887
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly OMIM:615996
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Postaxial polydactyly, Short stature, Growth delay, Intrauterine gr... OMIM:613792
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Tapered finger OMIM:607131
Aicardi Syndrome
Postnatal growth retardation, Microphthalmia, Proximal placement of thumb, Spina bifida OMIM:304050
Neurofibromatosis, Type I
Aqueductal stenosis, Genu valgum, Hydrocephalus, Spina bifida, Short stature, Tibial pseudarthrosis OMIM:162200
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... ORPHA:90652
Rhombencephalosynapsis
Polydactyly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Short phalanx of finger, Co... ORPHA:59315
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Encephalocele, Meningocele, Aplasia/Hypoplasia of the tibia, Preaxial foot p... ORPHA:1827
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Short stature OMIM:245800
Sandestig-Stefanova Syndrome
Rocker bottom foot, Bilateral single transverse palmar creases, Microphthalmia, Camptodactyly, In... OMIM:618804
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Joubert Syndrome 40
Postaxial polydactyly, Optic nerve hypoplasia OMIM:619582
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... ORPHA:163649
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Short stature, Brachydac... OMIM:258860
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Hip dislocation, Meningocele ORPHA:2003
Microphthalmia, Syndromic 8
Split foot, Microphthalmia OMIM:601349
Isolated Posterior Meningocele
Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,... ORPHA:268810
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short long bone, Brachydactyly, Short stature OMIM:613819
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand ORPHA:2547
Pagod Syndrome
Short stature, Spina bifida, Encephalocele, Meningocele ORPHA:991
Frontofacionasal Dysplasia
Short stature, Microphthalmia, Encephalocele ORPHA:1791
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Abnormally large globe, Postaxial polydactyly OMIM:603387
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Clinodactyly of the 5th finger, Meningocele ORPHA:2031
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... OMIM:615994
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Anophthalmia, Postaxial hand polydact... ORPHA:3378
Alg3-Cdg
Metaphyseal chondrodysplasia, Neural tube defect, Abnormal limb bone morphology ORPHA:79321
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Postnatal growth retardation, Short finger, Narrow greater sciatic notch, Microphthalmia, Rhizome... OMIM:608940
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... OMIM:614091
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl... OMIM:619721
3P25.3 Microdeletion Syndrome
Microphthalmia, Proximal placement of thumb, Broad thumb, Postaxial polydactyly, Broad hallux, 2-... ORPHA:435638
Seckel Syndrome 2
Short stature, Microphthalmia, Clinodactyly of the 5th finger, Growth delay OMIM:606744
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease OMIM:600251
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Pseudotrisomy 13 Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, 2-3 toe syndactyly, Postaxial hand polydactyly, Hol... OMIM:264480
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Microphthalmia ORPHA:261272
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Microphthalmia OMIM:613153
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Sandal gap, Short stature, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Ta... OMIM:612530
Fliedner-Zweier Syndrome
Hallux valgus, Tethered cord, Meningocele OMIM:620511
Braddock-Carey Syndrome 2
Microphthalmia, Clinodactyly OMIM:619981
Holoprosencephaly
Spinal cord tumor, Microphthalmia, Encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly,... ORPHA:2162
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
22Q11.2 Deletion Syndrome
Microphthalmia, Meningocele, Hydrocephalus, Spina bifida, Foot polydactyly, Arachnodactyly, Hand ... ORPHA:567
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Joubert Syndrome 39
Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger OMIM:619562
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... ORPHA:96334
Martsolf Syndrome 1
Microphthalmia, Slender ulna, Talipes equinovarus, Short metacarpal, Osteopathia striata, Metatar... OMIM:212720
Garg-Mishra Progeroid Syndrome
Postnatal growth retardation, Microphthalmia, Slender long bone, Short stature, Slender metacarpa... OMIM:620601
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... OMIM:612651
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Postnatal growth retardation, Microphthalmia, ... ORPHA:959
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Mosaic Trisomy 1
Rocker bottom foot, Deviation of the 5th toe, Microphthalmia, Broad 2nd toe, Broad toe, Elbow fle... ORPHA:1692
Oculofaciocardiodental Syndrome
Microphthalmia, Genu valgum, Clinodactyly of the 5th finger, Hammertoe, Cubitus valgus, 2-3 toe s... ORPHA:2712
2Q31.1 Microdeletion Syndrome
Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho... ORPHA:251014
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand OMIM:619339
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly ORPHA:313781
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Brachydactyly OMIM:615633
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Tapered finger, Spina bifida OMIM:619480
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Short stature, Syndactyly, Umbi... ORPHA:369891
Temtamy Syndrome
Microphthalmia, Short 2nd toe, Brachydactyly, Talipes equinovarus, Hip dislocation OMIM:218340
Joubert Syndrome 37
Postaxial polydactyly, Microphthalmia, Short stature OMIM:619185
Neurocutaneous Melanocytosis
Syringomyelia, Meningocele ORPHA:2481
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cutis Laxa, Autosomal Recessive, Type Ib
Bowing of the long bones, Spina bifida, Arachnodactyly, Long fingers, Neonatal death OMIM:614437
Joubert Syndrome 23
Polydactyly OMIM:616490
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Dural ectasia, Hydrocephalus, Prominent fingertip pads, Calcaneoval... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Dural ectasia, Hydrocephalus, Prominent fingertip pads, Calcaneoval... ORPHA:363958
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:1352
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Growth delay, Holoprosencephaly ORPHA:77298
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, Postaxial foot poly... ORPHA:139471
Joubert Syndrome 2
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:608091
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Anencephaly, Hydrocephalus, Micromelia, Postaxial polydactyly, Occipital me... OMIM:616546
Monosomy 13Q14
Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl... ORPHA:1587
Roberts Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic... ORPHA:3103
Fanconi Anemia, Complementation Group S
Short stature, Clinodactyly, Microphthalmia, Proximal placement of thumb OMIM:617883
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Postaxial polydactyly, Growth delay, Hip dysplasia, Intrauterine growth retardation OMIM:614576
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys... ORPHA:397715
Subaortic Stenosis-Short Stature Syndrome
Short stature, Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal b... ORPHA:3191
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Short stature, Absent thumb, Sh... OMIM:609053
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Single t... OMIM:244300
Congenital Sialidosis Type 2
Hydrocephalus, Polydactyly, Hypoplasia of the fovea, Umbilical hernia ORPHA:93400
Cohen Syndrome
Delayed puberty, Microphthalmia, Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone m... ORPHA:193
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease... OMIM:311900
9Q21.13 Microdeletion Syndrome
Polydactyly, Syringomyelia, Postnatal growth retardation, Hip dysplasia ORPHA:531151
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Solitary Median Maxillary Central Incisor
Short stature, Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:147250
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Camptodactyly, Arachnodactyly, Radioulnar synostosi... OMIM:248700
Stromme Syndrome
Stillbirth, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:243605
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Short stature, Microphthalmia OMIM:251270
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Hydrolethalus Syndrome 1
Stillbirth, Microphthalmia, Anencephaly, Upper limb undergrowth, Postaxial hand polydactyly, Dupl... OMIM:236680
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Microphthalmia, Short first metatarsal, Uln... OMIM:619135
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Postaxial hand polydacty... ORPHA:564
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Metaphyseal spu... OMIM:613091
Joubert Syndrome 27
Polydactyly OMIM:617120
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Jeune Syndrome
Abnormal metaphysis morphology, Cone-shaped epiphysis, Postaxial hand polydactyly, Abnormal pelvi... ORPHA:474
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Postax... ORPHA:404440
Suleiman-El-Hattab Syndrome
Polydactyly, Single transverse palmar crease, Clinodactyly, Brachydactyly OMIM:618950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Adducted thumb OMIM:614643
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Prominent fingertip pads, Hip dysplasia, Overlapping toe, Overlapping fingers OMIM:618494
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Neonatal death OMIM:613730
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Microphthalmia, Abnormally large globe OMIM:615249
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia OMIM:308350
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Lathosterolosis
Meningocele, Postaxial hand polydactyly, Intrauterine growth retardation, Toe syndactyly, Postaxi... ORPHA:46059
Mend Syndrome
Microphthalmia, Hydrocephalus, 2-3 toe syndactyly, Short stature, Hand polydactyly, Long fingers,... ORPHA:401973
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy... OMIM:617895
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Short palm,... OMIM:241410
Cerebrooculonasal Syndrome
Postnatal growth retardation, Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia,... OMIM:605627
Mend Syndrome
Polydactyly, Hydrocephalus, 2-3 toe syndactyly, Short stature, Long fingers, Broad hallux, Overla... OMIM:300960
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Microphthalmia, Brachydactyly OMIM:614526
Baraitser-Winter Syndrome 1
Duplication of phalanx of hallux, Microphthalmia, Postnatal growth retardation, Short stature OMIM:243310
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Rhizomelia, Epiphyseal stippling, Stippled calcific... OMIM:302960
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Short stature, Broad long bo... OMIM:257850
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Single transverse palmar crease, Microphthalmia, Broad hallux OMIM:614105
Walker-Warburg Syndrome
Hydrocephalus, Microphthalmia, Metatarsus valgus, Anophthalmia ORPHA:899
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Split foot, Umbilical hernia, Short... OMIM:305600
Baraitser-Winter Syndrome 2
Short stature, Microphthalmia OMIM:614583
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Umbi... ORPHA:2166
Stevenson-Carey Syndrome
Joint contracture of the hand, Microphthalmia, Camptodactyly, Hip dysplasia OMIM:611961
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Radial deviation of finger, Microphthalmia, Anencephaly,... OMIM:249000
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger OMIM:167730
Nance-Horan Syndrome
Microphthalmia, Short metacarpal ORPHA:627
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Buphthalmos, Microphthalmia, Encephalocele OMIM:613150
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Abnormal midbrain morphology, Short stature, Abnorm... ORPHA:356961
Incontinentia Pigmenti
Microphthalmia, Spina bifida occulta, Finger syndactyly, Abnormal hand morphology, Absent hand, D... ORPHA:464
Frontonasal Dysplasia 2
Intrauterine growth retardation, Microphthalmia, Encephalocele OMIM:613451
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Upper limb asymmetry, Microphthalmia, Umbilical hernia ORPHA:2505
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial polydactyly, S... OMIM:615503
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... OMIM:184705
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... ORPHA:3186
Orofaciodigital Syndrome I
Polydactyly, Radial deviation of finger, Hydrocephalus, Short 2nd toe, Myelomeningocele, Short st... OMIM:311200
Myoclonic-Astatic Epilepsy
Microphthalmia, Syndactyly ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele OMIM:253800
Lateral Meningocele Syndrome
Syringomyelia, Dural ectasia, Meningocele, Hydrocephalus, Tethered cord, Short stature, Umbilical... OMIM:130720
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly OMIM:618727
Heart And Brain Malformation Syndrome
Growth delay, Camptodactyly of finger, Hand clenching, Microphthalmia OMIM:616920
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Postaxial polydactyly OMIM:219730
Rere-Related Neurodevelopmental Syndrome
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation, Hip dysplasia ORPHA:494344
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Severe postnatal growth retardation, Short stature, Neonata... ORPHA:35173
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Bilateral talipes equinovarus, Growth delay, Absent thumb, Absent ... OMIM:614083
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Crani... ORPHA:306542
Joubert Syndrome 17
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Spondylo-Ocular Syndrome
Short stature, Microphthalmia, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of ... ORPHA:85194
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal metacarpal morphology, Anophthalmia, Abnormal finger morphology, Oligoda... ORPHA:2538
Lateral Meningocele Syndrome
Meningocele, Syringomyelia, Dural ectasia, Umbilical hernia ORPHA:2789
Warburg Micro Syndrome 2
Postnatal growth retardation, Clinodactyly of the 5th toe, Microphthalmia, Clinodactyly of the 4t... OMIM:614225
Monosomy 9Q22.3
Polydactyly, Microphthalmia, Palmar pits, Hydrocephalus, Umbilical hernia ORPHA:77301
Jacobsen Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Holoprosencephaly, Brachydactyly, ... OMIM:147791
Refsum Disease
Hammertoe, Microphthalmia, Short metacarpal, Abnormal epiphysis morphology ORPHA:773
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hydrocephalus, Aplasia of the 1st metacarpal, Short stature, Complete duplication... OMIM:227646
Yunis-Varon Syndrome
Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Aplasia of the 1st metacarpal, Sl... ORPHA:3472
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Short 4th metacarpal, Limited elbow movement, Hip subluxation, Clubb... ORPHA:221120
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Microphthalmia, Finger syndactyly, Broad distal phalanx of the toes, 2-3 toe... ORPHA:464738
Microphthalmia, Lenz Type
Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ... ORPHA:568
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Microphthalmia, Clinodactyly of the 5th finger OMIM:617306
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Intrauterine growth retardation OMIM:615824
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Short stature, Absent thumb, Short thumb, 2-3 finger sy... OMIM:603467
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Short... ORPHA:2754
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Microphthalmia, Single transverse palmar crease, Camptodact... OMIM:272950
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Short palm, Microphthalmia, Foot polydactyly ORPHA:268249
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Joint contracture of the 5th finger, Single transverse palmar crease, 2-3 toe syn... OMIM:620098
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Bilateral mi... ORPHA:2399
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Microphthalmia, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysplasia ORPHA:3301
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Oculogastrointestinal Neurodevelopmental Syndrome
Short stature, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Warburg Micro Syndrome 3
Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger OMIM:614222
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Int... OMIM:210710
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Buphthalmos, Microphthalmia OMIM:616538
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Growth delay, Ho... OMIM:613884
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sandal gap, Camptodactyly of toe, Toe syndactyly ORPHA:251038
Adnp Syndrome
Polydactyly, Sandal gap, Single transverse palmar crease, Abnormal finger morphology, 2-3 toe syn... ORPHA:404448
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers ORPHA:335
Galloway-Mowat Syndrome 1
Microphthalmia, Camptodactyly, Slender finger, Short stature, Hypoplasia of the iris, Hand clench... OMIM:251300
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Short metacarpal, Camptodactyly, Growth delay, Syndactyly, Absent palmar crease OMIM:614230
Au-Kline Syndrome
Syringomyelia, Clinodactyly of the 5th finger, Deep palmar crease, Lipomyelomeningocele, Postaxia... OMIM:616580
Neurooculocardiogenitourinary Syndrome
Abnormality of the palmar creases, Microphthalmia OMIM:618652
Holoprosencephaly 7
Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ... OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Meningoencephaloc... OMIM:236670
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Nance-Horan Syndrome
Broad finger, Short phalanx of finger, Microphthalmia OMIM:302350
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short stature, Overlapping toe, Microphthalmia OMIM:618571
Galloway-Mowat Syndrome 3
Microphthalmia, Camptodactyly, Short stature, Arachnodactyly, Intrauterine growth retardation, Hi... OMIM:617729
Oculoauricular Syndrome
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia OMIM:612109
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation, Short foot, Small hand ORPHA:2714
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Slender long bone, Tibial bowing, Osteolytic defects of the distal phalanges of t... OMIM:601812
Ohdo Syndrome, X-Linked
Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda... OMIM:300895
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... OMIM:617925
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Microphthalmia, Short stature OMIM:616395
Myhre Syndrome
Short finger, Cone-shaped epiphysis, Radial deviation of finger, Microphthalmia, Hypoplastic ilia... OMIM:139210
Holoprosencephaly 9
Microphthalmia, Alobar holoprosencephaly, Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Po... OMIM:610829
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Short stature OMIM:617914
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Abnormality of the upper limb, Growth delay, Shor... ORPHA:1052
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion... OMIM:268300
Bartsocas-Papas Syndrome 1
Microphthalmia, Ulnar bowing, Absent palmar crease, Hypoplastic iliac wing, Oligodactyly, Short m... OMIM:263650
8Q21.11 Microdeletion Syndrome
Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen... ORPHA:284160
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly OMIM:615877
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Microphthalmia, Hypoplasia of the iris OMIM:613001
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hypoplasia, Postaxial polydactyly, Bro... ORPHA:457284
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g... OMIM:306955
Fanconi Anemia, Complementation Group C
Microphthalmia, Short stature, Complete duplication of thumb phalanx, Absent thumb, Short thumb, ... OMIM:227645
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Flexion contracture of finger, Meningocele ORPHA:1010
Fanconi Anemia, Complementation Group E
Microphthalmia, Short stature, Complete duplication of thumb phalanx, Absent thumb, Short thumb, ... OMIM:600901
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele, Brachydactyly, Toe syndactyly, Talipes equinovarus OMIM:100300
Fetal Alcohol Syndrome
Intrauterine growth retardation, Microphthalmia, Short stature ORPHA:1915
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Clinodactyly of the 5th finger, Deep palmar crease, Single transverse palmar crease,... OMIM:247200
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Abnormal palmar dermatoglyphics, Microphthalmia, Postnatal growt... ORPHA:2728
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of th... ORPHA:364577
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, 2-3 toe syndactyly, Microphthalmia OMIM:616449
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Hypoplasia of the radius, Microphthalmia, Absent thumb, Short thumb OMIM:610832
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly, Finger aplasia OMIM:207770
Pallister-Hall Syndrome
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Intrauterine ... ORPHA:672
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Short stature, 2-4 toe syndact... OMIM:614099
Warburg Micro Syndrome 4
Short stature, Microphthalmia, Severe postnatal growth retardation OMIM:615663
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Postaxial polydactyly, Sh... ORPHA:2886
Fanconi Anemia, Complementation Group A
Microphthalmia, Short stature, Complete duplication of thumb phalanx, Absent thumb, Short thumb, ... OMIM:227650
Momo Syndrome
Bilateral microphthalmos, Femoral bowing, Short stature, Short sternum, Large hands, Congenital p... ORPHA:2563
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short stature, Short distal ... OMIM:201180
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Microphthalmia, Hammertoe, Sandal gap, Anophthalmia, Contracture of... OMIM:300166
Charge Syndrome
Polydactyly, Aqueductal stenosis, Postnatal growth retardation, Delayed puberty, Abnormal tibia m... ORPHA:138
Cat Eye Syndrome
Absent radius, Microphthalmia, Short stature, Umbilical hernia OMIM:115470
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Bardet-Biedl Syndrome 12
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:615989
Khan-Khan-Katsanis Syndrome
Tethered cord, Postaxial polydactyly, Short stature, Intrauterine growth retardation, Buphthalmos... OMIM:618460
Cockayne Syndrome B
Postnatal growth retardation, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, ... OMIM:133540
Bardet-Biedl Syndrome 1
Radial deviation of finger, Postaxial hand polydactyly, Foot polydactyly, Postaxial polydactyly, ... OMIM:209900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Tapered finger, Postaxial polydactyly, Short stature, Hip dysplasia, Hip dislocation, Short foot,... OMIM:300968
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Micro Syndrome
Delayed puberty, Microphthalmia, Intrauterine growth retardation, Short stature ORPHA:2510
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Optic nerve hypoplasia, Intrauterine growth retardation, Short 5th finger, Lo... ORPHA:508488
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Broad thumb, Camptodactyly of finger,... ORPHA:1236
Dubowitz Syndrome
Postnatal growth retardation, Microphthalmia, Clinodactyly of the 5th finger, Single transverse p... OMIM:223370
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Oculodentodigital Dysplasia
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short... OMIM:164200
Skin Creases, Congenital Symmetric Circumferential, 1
Long fingers, Microphthalmia OMIM:156610
Rodrigues Blindness
Short stature, Microphthalmia OMIM:268320
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia, 4-5 finger syndactyly, Camptodactyly of finger,... ORPHA:468631
3Q29 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Tapered finger ORPHA:65286
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Delayed puberty, Pituitary dwarfism, Optic nerve hypoplasia, Abnormal digit morpholo... ORPHA:95494
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Congenital hip dislocation, Short stature, Short palm, Short thumb, Forearm reduc... OMIM:268400
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Short stature, Arachnodactyly, Intrau... ORPHA:464306
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Short s... OMIM:619297
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Single transverse palmar crease, Microphthalmia OMIM:619053
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
Witteveen-Kolk Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly of the 5th finger, Proximal placement of... OMIM:613406
Fraser Syndrome
Microphthalmia, Encephalocele, Anophthalmia, Finger syndactyly, Myelomeningocele, Limb undergrowt... ORPHA:2052
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia OMIM:229400
3Mc Syndrome 3
Preaxial polydactyly, Short stature, Growth delay, Radioulnar synostosis